chr7-81729637-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_000601.6(HGF):c.1008G>A(p.Glu336Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00278 in 1,613,782 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000601.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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HGF | ENST00000222390.11 | c.1008G>A | p.Glu336Glu | synonymous_variant | Exon 8 of 18 | 1 | NM_000601.6 | ENSP00000222390.5 | ||
HGF | ENST00000457544.7 | c.993G>A | p.Glu331Glu | synonymous_variant | Exon 8 of 18 | 1 | ENSP00000391238.2 |
Frequencies
GnomAD3 genomes AF: 0.00192 AC: 292AN: 152094Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00170 AC: 428AN: 251444Hom.: 1 AF XY: 0.00155 AC XY: 210AN XY: 135896
GnomAD4 exome AF: 0.00286 AC: 4187AN: 1461570Hom.: 8 Cov.: 31 AF XY: 0.00278 AC XY: 2018AN XY: 727112
GnomAD4 genome AF: 0.00192 AC: 292AN: 152212Hom.: 1 Cov.: 32 AF XY: 0.00177 AC XY: 132AN XY: 74430
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:3
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HGF: BP4, BP7 -
not specified Benign:2
Glu336Glu in Exon 08 of HGF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.3% (24/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148714837). -
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Autosomal recessive nonsyndromic hearing loss 39 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at