NM_018491.5:c.929G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_018491.5(ZNG1A):c.929G>A(p.Cys310Tyr) variant causes a missense change. 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 Uncertain significance (★).
Frequency
Consequence
NM_018491.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNG1A | ENST00000356521.9 | c.929G>A | p.Cys310Tyr | missense_variant | Exon 13 of 15 | 1 | NM_018491.5 | ENSP00000348915.4 | ||
ZNG1A | ENST00000465014.6 | n.*527G>A | non_coding_transcript_exon_variant | Exon 13 of 15 | 2 | ENSP00000482298.1 | ||||
ZNG1A | ENST00000612045.4 | n.*650G>A | non_coding_transcript_exon_variant | Exon 14 of 16 | 1 | ENSP00000477749.1 | ||||
ZNG1A | ENST00000616944.4 | n.*474G>A | non_coding_transcript_exon_variant | Exon 14 of 14 | 2 | ENSP00000482821.1 | ||||
ZNG1A | ENST00000619157.4 | n.*474G>A | non_coding_transcript_exon_variant | Exon 10 of 12 | 5 | ENSP00000483746.1 | ||||
ZNG1A | ENST00000465014.6 | n.*527G>A | 3_prime_UTR_variant | Exon 13 of 15 | 2 | ENSP00000482298.1 | ||||
ZNG1A | ENST00000612045.4 | n.*650G>A | 3_prime_UTR_variant | Exon 14 of 16 | 1 | ENSP00000477749.1 | ||||
ZNG1A | ENST00000616944.4 | n.*474G>A | 3_prime_UTR_variant | Exon 14 of 14 | 2 | ENSP00000482821.1 | ||||
ZNG1A | ENST00000619157.4 | n.*474G>A | 3_prime_UTR_variant | Exon 10 of 12 | 5 | ENSP00000483746.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 8AN: 125350Hom.: 0 Cov.: 18 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000109 AC: 15AN: 1371232Hom.: 0 Cov.: 25 AF XY: 0.0000132 AC XY: 9AN XY: 683582
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000638 AC: 8AN: 125350Hom.: 0 Cov.: 18 AF XY: 0.0000668 AC XY: 4AN XY: 59908
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.929G>A (p.C310Y) alteration is located in exon 13 (coding exon 13) of the CBWD1 gene. This alteration results from a G to A substitution at nucleotide position 929, causing the cysteine (C) at amino acid position 310 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