rs2271904
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007265.3(ECD):āc.1901A>Gā(p.Asp634Gly) variant causes a missense change. The variant allele was found at a frequency of 0.083 in 1,614,064 control chromosomes in the GnomAD database, including 8,384 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_007265.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ECD | NM_007265.3 | c.1901A>G | p.Asp634Gly | missense_variant | 14/14 | ENST00000372979.9 | |
ECD | NM_001135752.1 | c.2000A>G | p.Asp667Gly | missense_variant | 15/15 | ||
ECD | NM_001135753.1 | c.1772A>G | p.Asp591Gly | missense_variant | 13/13 | ||
ECD | NR_024203.1 | n.1733A>G | non_coding_transcript_exon_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ECD | ENST00000372979.9 | c.1901A>G | p.Asp634Gly | missense_variant | 14/14 | 1 | NM_007265.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.105 AC: 15923AN: 152140Hom.: 1218 Cov.: 32
GnomAD3 exomes AF: 0.110 AC: 27648AN: 251416Hom.: 2389 AF XY: 0.113 AC XY: 15338AN XY: 135878
GnomAD4 exome AF: 0.0807 AC: 117965AN: 1461806Hom.: 7146 Cov.: 31 AF XY: 0.0846 AC XY: 61522AN XY: 727208
GnomAD4 genome ? AF: 0.105 AC: 15983AN: 152258Hom.: 1238 Cov.: 32 AF XY: 0.107 AC XY: 7985AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at