chr5-35068798-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000949.7(PRLR):c.766G>A(p.Val256Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000373 in 1,609,788 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000949.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRLR | NM_000949.7 | c.766G>A | p.Val256Met | missense_variant | 8/10 | ENST00000618457.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRLR | ENST00000618457.5 | c.766G>A | p.Val256Met | missense_variant | 8/10 | 1 | NM_000949.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000231 AC: 35AN: 151742Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251324Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135814
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1457928Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 725602
GnomAD4 genome ? AF: 0.000230 AC: 35AN: 151860Hom.: 0 Cov.: 31 AF XY: 0.000216 AC XY: 16AN XY: 74198
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Sep 24, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at