chr18-54331772-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_139171.2(STARD6):c.355C>T(p.Arg119Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,611,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_139171.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STARD6 | NM_139171.2 | c.355C>T | p.Arg119Cys | missense_variant | 6/8 | ENST00000307844.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STARD6 | ENST00000307844.4 | c.355C>T | p.Arg119Cys | missense_variant | 6/8 | 1 | NM_139171.2 | P2 | |
STARD6 | ENST00000686109.1 | c.388C>T | p.Arg130Cys | missense_variant | 7/9 | A2 | |||
STARD6 | ENST00000581310.5 | c.355C>T | p.Arg119Cys | missense_variant | 7/9 | 5 | P2 | ||
STARD6 | ENST00000689888.1 | c.*411C>T | 3_prime_UTR_variant, NMD_transcript_variant | 6/8 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250940Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135600
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459284Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 725862
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2022 | The c.355C>T (p.R119C) alteration is located in exon 4 (coding exon 4) of the STARD6 gene. This alteration results from a C to T substitution at nucleotide position 355, causing the arginine (R) at amino acid position 119 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at