rs11013233
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173081.5(ARMC3):āc.1822T>Cā(p.Ser608Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0397 in 1,605,986 control chromosomes in the GnomAD database, including 1,516 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_173081.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARMC3 | NM_173081.5 | c.1822T>C | p.Ser608Pro | missense_variant | 14/19 | ENST00000298032.10 | |
LOC107984215 | XR_001747394.2 | n.555-11156A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARMC3 | ENST00000298032.10 | c.1822T>C | p.Ser608Pro | missense_variant | 14/19 | 1 | NM_173081.5 | A1 | |
ENST00000655462.1 | n.117-40656A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0314 AC: 4777AN: 152158Hom.: 105 Cov.: 32
GnomAD3 exomes AF: 0.0383 AC: 9369AN: 244700Hom.: 239 AF XY: 0.0408 AC XY: 5403AN XY: 132278
GnomAD4 exome AF: 0.0406 AC: 58998AN: 1453710Hom.: 1411 Cov.: 30 AF XY: 0.0415 AC XY: 30029AN XY: 723158
GnomAD4 genome ? AF: 0.0314 AC: 4778AN: 152276Hom.: 105 Cov.: 32 AF XY: 0.0326 AC XY: 2427AN XY: 74460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at