rs61749695
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_080425.4(GNAS):āc.500A>Gā(p.Asp167Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,613,354 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_080425.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GNAS | ENST00000676826.2 | c.500A>G | p.Asp167Gly | missense_variant | Exon 1 of 13 | ENSP00000504675.2 | ||||
GNAS | ENST00000371102.8 | c.500A>G | p.Asp167Gly | missense_variant | Exon 1 of 12 | 5 | ENSP00000360143.4 | |||
GNAS | ENST00000371075.7 | c.*42+12879A>G | intron_variant | Intron 1 of 12 | 1 | NM_016592.5 | ENSP00000360115.3 | |||
GNAS | ENST00000663479.2 | c.-39+11890A>G | intron_variant | Intron 1 of 12 | ENSP00000499353.2 | |||||
GNAS | ENST00000462499.6 | c.-39+11890A>G | intron_variant | Intron 1 of 11 | 2 | ENSP00000499758.2 | ||||
GNAS | ENST00000467227.6 | c.-39+9691A>G | intron_variant | Intron 2 of 12 | 3 | ENSP00000499681.2 | ||||
GNAS | ENST00000453292.7 | c.*42+12879A>G | intron_variant | Intron 1 of 11 | 5 | ENSP00000392000.2 |
Frequencies
GnomAD3 genomes AF: 0.00668 AC: 1016AN: 152138Hom.: 10 Cov.: 33
GnomAD3 exomes AF: 0.00168 AC: 416AN: 247672Hom.: 3 AF XY: 0.00127 AC XY: 171AN XY: 134668
GnomAD4 exome AF: 0.000699 AC: 1022AN: 1461098Hom.: 8 Cov.: 33 AF XY: 0.000601 AC XY: 437AN XY: 726812
GnomAD4 genome AF: 0.00669 AC: 1018AN: 152256Hom.: 10 Cov.: 33 AF XY: 0.00635 AC XY: 473AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:4
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not specified Benign:1Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at