rs3758490
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The ENST00000395254.8(ZNF365):c.1009G>T(p.Ala337Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.579 in 1,613,656 control chromosomes in the GnomAD database, including 280,486 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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
ENST00000395254.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF365 | NM_014951.3 | c.1009G>T | p.Ala337Ser | missense_variant | 5/5 | ENST00000395254.8 | NP_055766.2 | |
ZNF365 | NM_199450.3 | c.924+10998G>T | intron_variant | NP_955522.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF365 | ENST00000395254.8 | c.1009G>T | p.Ala337Ser | missense_variant | 5/5 | 1 | NM_014951.3 | ENSP00000378674 | P1 | |
ZNF365 | ENST00000395255.7 | c.924+10998G>T | intron_variant | 1 | ENSP00000378675 | |||||
ZNF365 | ENST00000466727.1 | n.372G>T | non_coding_transcript_exon_variant | 4/4 | 1 |
Frequencies
GnomAD3 genomes AF: 0.473 AC: 71828AN: 151706Hom.: 20314 Cov.: 31
GnomAD3 exomes AF: 0.553 AC: 138925AN: 251404Hom.: 40455 AF XY: 0.554 AC XY: 75266AN XY: 135886
GnomAD4 exome AF: 0.590 AC: 862182AN: 1461832Hom.: 260163 Cov.: 66 AF XY: 0.587 AC XY: 427171AN XY: 727210
GnomAD4 genome AF: 0.473 AC: 71837AN: 151824Hom.: 20323 Cov.: 31 AF XY: 0.474 AC XY: 35137AN XY: 74172
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 05, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at