chr1-169514323-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000130.5(F5):āc.6665A>Gā(p.Asp2222Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0594 in 1,612,978 control chromosomes in the GnomAD database, including 3,361 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_000130.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
F5 | ENST00000367797.9 | c.6665A>G | p.Asp2222Gly | missense_variant | Exon 25 of 25 | 1 | NM_000130.5 | ENSP00000356771.3 | ||
F5 | ENST00000367796.3 | c.6680A>G | p.Asp2227Gly | missense_variant | Exon 25 of 25 | 5 | ENSP00000356770.3 | |||
F5 | ENST00000495481.1 | n.439A>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0540 AC: 8202AN: 152012Hom.: 349 Cov.: 32
GnomAD3 exomes AF: 0.0641 AC: 16084AN: 251060Hom.: 659 AF XY: 0.0649 AC XY: 8800AN XY: 135692
GnomAD4 exome AF: 0.0600 AC: 87631AN: 1460848Hom.: 3011 Cov.: 31 AF XY: 0.0608 AC XY: 44201AN XY: 726756
GnomAD4 genome AF: 0.0539 AC: 8202AN: 152130Hom.: 350 Cov.: 32 AF XY: 0.0564 AC XY: 4198AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 33103541, 31399523, 22044617, 14656739, 14695293, 25896652, 20694279) -
not specified Benign:1
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Congenital factor V deficiency Benign:1
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Thrombophilia due to activated protein C resistance 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at