13-37578894-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006475.3(POSTN):c.1912G>T(p.Asp638Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000348 in 1,437,326 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006475.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POSTN | NM_006475.3 | c.1912G>T | p.Asp638Tyr | missense_variant | Exon 15 of 23 | ENST00000379747.9 | NP_006466.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 233966Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 126802
GnomAD4 exome AF: 0.00000348 AC: 5AN: 1437326Hom.: 0 Cov.: 34 AF XY: 0.00000280 AC XY: 2AN XY: 714116
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1912G>T (p.D638Y) alteration is located in exon 15 (coding exon 15) of the POSTN gene. This alteration results from a G to T substitution at nucleotide position 1912, causing the aspartic acid (D) at amino acid position 638 to be replaced by a tyrosine (Y). 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