rs3779617
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_024915.4(GRHL2):c.1243G>A(p.Val415Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00545 in 1,612,456 control chromosomes in the GnomAD database, including 302 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. V415V) has been classified as Likely benign.
Frequency
Consequence
NM_024915.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRHL2 | NM_024915.4 | c.1243G>A | p.Val415Ile | missense_variant | 9/16 | ENST00000646743.1 | |
GRHL2 | NM_001330593.2 | c.1195G>A | p.Val399Ile | missense_variant | 9/16 | ||
GRHL2 | XM_011517306.4 | c.1195G>A | p.Val399Ile | missense_variant | 9/16 | ||
GRHL2 | XM_011517307.4 | c.1243G>A | p.Val415Ile | missense_variant | 9/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRHL2 | ENST00000646743.1 | c.1243G>A | p.Val415Ile | missense_variant | 9/16 | NM_024915.4 | P1 | ||
GRHL2 | ENST00000395927.1 | c.1195G>A | p.Val399Ile | missense_variant | 9/16 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00728 AC: 1108AN: 152098Hom.: 33 Cov.: 32
GnomAD3 exomes AF: 0.0135 AC: 3399AN: 250920Hom.: 123 AF XY: 0.0122 AC XY: 1656AN XY: 135606
GnomAD4 exome AF: 0.00526 AC: 7678AN: 1460240Hom.: 269 Cov.: 29 AF XY: 0.00514 AC XY: 3732AN XY: 726606
GnomAD4 genome AF: 0.00725 AC: 1104AN: 152216Hom.: 33 Cov.: 32 AF XY: 0.00897 AC XY: 668AN XY: 74432
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 07, 2012 | Val415Ile in Exon 09 of GRHL2: This variant is not expected to have clinical sig nificance because it has been identified in 14.7% (25/170) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs3 779617). - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 09, 2017 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at