12-57449922-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005538.4(INHBC):c.959C>T(p.Thr320Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000545 in 1,595,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005538.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000254 AC: 6AN: 236096Hom.: 0 AF XY: 0.0000314 AC XY: 4AN XY: 127306
GnomAD4 exome AF: 0.0000499 AC: 72AN: 1443562Hom.: 0 Cov.: 35 AF XY: 0.0000489 AC XY: 35AN XY: 716108
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.959C>T (p.T320M) alteration is located in exon 2 (coding exon 2) of the INHBC gene. This alteration results from a C to T substitution at nucleotide position 959, causing the threonine (T) at amino acid position 320 to be replaced by a methionine (M). 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