12-57449928-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_005538.4(INHBC):c.965G>A(p.Arg322Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.219 in 1,589,440 control chromosomes in the GnomAD database, including 42,225 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005538.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INHBC | NM_005538.4 | c.965G>A | p.Arg322Gln | missense_variant | 2/2 | ENST00000309668.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INHBC | ENST00000309668.3 | c.965G>A | p.Arg322Gln | missense_variant | 2/2 | 1 | NM_005538.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.186 AC: 28321AN: 151996Hom.: 3124 Cov.: 32
GnomAD3 exomes AF: 0.216 AC: 50291AN: 232398Hom.: 7117 AF XY: 0.204 AC XY: 25534AN XY: 125032
GnomAD4 exome AF: 0.222 AC: 319221AN: 1437326Hom.: 39093 Cov.: 36 AF XY: 0.216 AC XY: 153872AN XY: 712212
GnomAD4 genome AF: 0.186 AC: 28342AN: 152114Hom.: 3132 Cov.: 32 AF XY: 0.183 AC XY: 13641AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 18, 2019 | This variant is associated with the following publications: (PMID: 30315176) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at