6-36366942-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The ENST00000340181.9(ETV7):c.841C>T(p.Arg281Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000818 in 1,613,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R281H) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000340181.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ETV7 | NM_016135.4 | c.841C>T | p.Arg281Cys | missense_variant | 7/8 | ENST00000340181.9 | NP_057219.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ETV7 | ENST00000340181.9 | c.841C>T | p.Arg281Cys | missense_variant | 7/8 | 1 | NM_016135.4 | ENSP00000341843 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 151918Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000755 AC: 19AN: 251490Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135916
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000894 AC XY: 65AN XY: 727242
GnomAD4 genome AF: 0.000112 AC: 17AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.841C>T (p.R281C) alteration is located in exon 7 (coding exon 7) of the ETV7 gene. This alteration results from a C to T substitution at nucleotide position 841, causing the arginine (R) at amino acid position 281 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at