NM_000064.4:c.304C>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000064.4(C3):āc.304C>Gā(p.Arg102Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.187 in 1,614,024 control chromosomes in the GnomAD database, including 31,345 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_000064.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.141 AC: 21517AN: 152112Hom.: 2011 Cov.: 32
GnomAD3 exomes AF: 0.150 AC: 37843AN: 251466Hom.: 3504 AF XY: 0.155 AC XY: 21120AN XY: 135908
GnomAD4 exome AF: 0.192 AC: 281032AN: 1461794Hom.: 29334 Cov.: 38 AF XY: 0.191 AC XY: 138972AN XY: 727206
GnomAD4 genome AF: 0.141 AC: 21521AN: 152230Hom.: 2011 Cov.: 32 AF XY: 0.139 AC XY: 10331AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 29485352, 30131807, 25322978, 7870343, 20385819, 21555552, 24736606, 19823576, 19168221, 17634448, 24036950, 24036949, 20664795, 25488663, 21784901, 18325906, 25688879, 25087612) -
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Age related macular degeneration 9 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. -
C3S/C3F POLYMORPHISM Benign:1
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Focal segmental glomerulosclerosis Benign:1
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MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at