rs369386099
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_004821.3(HAND1):c.180G>A(p.Gly60Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,595,792 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004821.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000625 AC: 95AN: 152076Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000172 AC: 37AN: 215430Hom.: 0 AF XY: 0.000141 AC XY: 17AN XY: 120472
GnomAD4 exome AF: 0.0000630 AC: 91AN: 1443716Hom.: 0 Cov.: 33 AF XY: 0.0000543 AC XY: 39AN XY: 718094
GnomAD4 genome AF: 0.000625 AC: 95AN: 152076Hom.: 1 Cov.: 32 AF XY: 0.000673 AC XY: 50AN XY: 74304
ClinVar
Submissions by phenotype
HAND1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Hypoplastic left heart syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at