rs776305383
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBS1BS2
The NM_002890.3(RASA1):c.2266C>T(p.Leu756=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000822 in 1,459,824 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L756L) has been classified as Likely benign.
Frequency
Consequence
NM_002890.3 synonymous
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 |
---|---|---|---|---|---|---|---|
RASA1 | NM_002890.3 | c.2266C>T | p.Leu756= | synonymous_variant | 17/25 | ENST00000274376.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASA1 | ENST00000274376.11 | c.2266C>T | p.Leu756= | synonymous_variant | 17/25 | 1 | NM_002890.3 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251102Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135690
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459824Hom.: 0 Cov.: 31 AF XY: 0.00000964 AC XY: 7AN XY: 726428
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Capillary malformation-arteriovenous malformation syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 30, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at