chr7-129512332-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195243.2(SMKR1):c.89C>T(p.Ala30Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000228 in 1,536,042 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_001195243.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000298 AC: 4AN: 134422Hom.: 0 AF XY: 0.0000546 AC XY: 4AN XY: 73206
GnomAD4 exome AF: 0.0000210 AC: 29AN: 1383702Hom.: 0 Cov.: 30 AF XY: 0.0000278 AC XY: 19AN XY: 682804
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152340Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.89C>T (p.A30V) alteration is located in exon 2 (coding exon 2) of the SMKR1 gene. This alteration results from a C to T substitution at nucleotide position 89, causing the alanine (A) at amino acid position 30 to be replaced by a valine (V). 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