chr14-73949995-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_152445.3(FAM161B):c.32G>C(p.Gly11Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0102 in 1,613,392 control chromosomes in the GnomAD database, including 294 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 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_152445.3 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 |
---|---|---|---|---|---|---|---|
FAM161B | NM_152445.3 | c.32G>C | p.Gly11Ala | missense_variant | 1/9 | ENST00000286544.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM161B | ENST00000286544.5 | c.32G>C | p.Gly11Ala | missense_variant | 1/9 | 1 | NM_152445.3 | P1 | |
COQ6 | ENST00000554341.6 | c.-98C>G | 5_prime_UTR_variant, NMD_transcript_variant | 1/11 | 1 | ||||
FAM161B | ENST00000651776.1 | c.221G>C | p.Gly74Ala | missense_variant | 1/9 | ||||
COQ6 | ENST00000394026.8 | c.-98C>G | 5_prime_UTR_variant | 1/12 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0257 AC: 3916AN: 152156Hom.: 114 Cov.: 32
GnomAD3 exomes AF: 0.0136 AC: 3400AN: 249948Hom.: 79 AF XY: 0.0140 AC XY: 1902AN XY: 135468
GnomAD4 exome AF: 0.00853 AC: 12468AN: 1461118Hom.: 180 Cov.: 32 AF XY: 0.00909 AC XY: 6608AN XY: 726912
GnomAD4 genome ? AF: 0.0258 AC: 3927AN: 152274Hom.: 114 Cov.: 32 AF XY: 0.0255 AC XY: 1896AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 28, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at