rs61745871
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_020937.4(FANCM):c.2445G>A(p.Ser815Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00147 in 1,610,974 control chromosomes in the GnomAD database, including 41 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020937.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00726 AC: 1104AN: 151978Hom.: 19 Cov.: 32
GnomAD3 exomes AF: 0.00199 AC: 499AN: 250470Hom.: 5 AF XY: 0.00144 AC XY: 195AN XY: 135366
GnomAD4 exome AF: 0.000852 AC: 1243AN: 1458878Hom.: 16 Cov.: 30 AF XY: 0.000766 AC XY: 556AN XY: 725860
GnomAD4 genome AF: 0.00740 AC: 1125AN: 152096Hom.: 25 Cov.: 32 AF XY: 0.00744 AC XY: 553AN XY: 74352
ClinVar
Submissions by phenotype
not specified Benign:3
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not provided Benign:2
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Premature ovarian failure 15 Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as likely 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. -
Fanconi anemia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at