2-105361304-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001318895.3(FHL2):c.819C>T(p.Pro273Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 1,613,040 control chromosomes in the GnomAD database, including 27,859 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001318895.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.159 AC: 24171AN: 152098Hom.: 2147 Cov.: 32
GnomAD3 exomes AF: 0.158 AC: 39675AN: 250382Hom.: 3639 AF XY: 0.162 AC XY: 21900AN XY: 135300
GnomAD4 exome AF: 0.182 AC: 266232AN: 1460824Hom.: 25714 Cov.: 31 AF XY: 0.182 AC XY: 132086AN XY: 726712
GnomAD4 genome AF: 0.159 AC: 24170AN: 152216Hom.: 2145 Cov.: 32 AF XY: 0.160 AC XY: 11901AN XY: 74424
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs11124029, MAF >1%). -
Primary dilated cardiomyopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at