6-149683498-G-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004690.4(LATS1):c.1591C>T(p.Pro531Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00719 in 1,614,200 control chromosomes in the GnomAD database, including 61 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_004690.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00468 AC: 713AN: 152198Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00414 AC: 1040AN: 251482Hom.: 1 AF XY: 0.00397 AC XY: 539AN XY: 135914
GnomAD4 exome AF: 0.00745 AC: 10890AN: 1461884Hom.: 58 Cov.: 32 AF XY: 0.00715 AC XY: 5199AN XY: 727246
GnomAD4 genome AF: 0.00468 AC: 713AN: 152316Hom.: 3 Cov.: 32 AF XY: 0.00459 AC XY: 342AN XY: 74470
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 30, 2018 | - - |
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at