rs4968849
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001377321.1(ABCA10):āc.2747T>Cā(p.Met916Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.718 in 1,581,928 control chromosomes in the GnomAD database, including 411,137 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001377321.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCA10 | NM_001377321.1 | c.2747T>C | p.Met916Thr | missense_variant | 22/39 | ENST00000690296.1 | |
ABCA10 | NM_080282.4 | c.2747T>C | p.Met916Thr | missense_variant | 23/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA10 | ENST00000690296.1 | c.2747T>C | p.Met916Thr | missense_variant | 22/39 | NM_001377321.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.748 AC: 113567AN: 151800Hom.: 43026 Cov.: 30
GnomAD3 exomes AF: 0.710 AC: 164354AN: 231388Hom.: 59261 AF XY: 0.708 AC XY: 88972AN XY: 125730
GnomAD4 exome AF: 0.715 AC: 1022480AN: 1430010Hom.: 368074 Cov.: 43 AF XY: 0.714 AC XY: 507859AN XY: 711312
GnomAD4 genome ? AF: 0.748 AC: 113664AN: 151918Hom.: 43063 Cov.: 30 AF XY: 0.746 AC XY: 55399AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at