FHL1 : c.689-8C>T

FHL1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.689-8C>Tsubstitutionsplice site chrX:135292022 (forward strand)0.49447772

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.49447772 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

HCM

OMGL: Detected in 0 / 1535 HCM patients.

DCM

OMGL: Detected in 0 / 355 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.49805301
21104 / 42373		0.35791367
2786 / 7784		0.64466643
3614 / 5606		0.43802464
4018 / 9173		0.51496214
4285 / 8321		0.59883580
2469 / 4123		0.47140381
272 / 577		0.49447772
38548 / 77957
ESP 0.43966
2958 / 6728		 0.28866
1107 / 3835		 0.38483
4065 / 10563
1KG
 0.45442
324 / 713		 0.34129
386 / 1131		 0.58092
542 / 933		 0.43294
368 / 850		 0.41071
253 / 616		 0.48108
89 / 185		 0.44309
1962 / 4428
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.48780
80 / 164
British
0.36538
38 / 104
African-American
0.61047
105 / 172
Chinese Dai
0.45033
68 / 151
Bengali
0.44444
76 / 171
Colombian
0.37705
69 / 183
Iberian
0.35928
60 / 167
African-Caribbean
0.56085
106 / 189
Han, Beijing
0.40351
69 / 171
Gujarati Indian
0.47321
53 / 112
Mexican, LA
0.40217
74 / 184
Toscani
0.36310
61 / 168
Esan, Nigeria
0.52083
100 / 192
Japanese
0.46629
83 / 178
Indian Telugu
0.36242
54 / 149
Peruvian
0.55495
101 / 182
Utah Europeans
0.32995
65 / 197
Gambian
0.60847
115 / 189
Kinh, Vietnam
0.41477
73 / 176
Punjabi, Lahore
0.38043
70 / 184
Puerto Rican
0.36000
63 / 175
Luhya, Kenya
0.60733
116 / 191
Southern Han
0.43103
75 / 174
Tamil
0.31884
44 / 138
Mende
0.30220
55 / 182
Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000370690 NM_001449.4
Protein ENSP00000359724



References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.