1-169704733-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP6_Very_StrongBS2
The NM_000655.5(SELL):āc.601G>Cā(p.Glu201Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00066 in 1,546,422 control chromosomes in the GnomAD database, including 8 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 (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000655.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00317 AC: 483AN: 152126Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.000853 AC: 133AN: 156006Hom.: 2 AF XY: 0.000608 AC XY: 50AN XY: 82302
GnomAD4 exome AF: 0.000387 AC: 539AN: 1394178Hom.: 4 Cov.: 31 AF XY: 0.000323 AC XY: 222AN XY: 687162
GnomAD4 genome AF: 0.00317 AC: 482AN: 152244Hom.: 4 Cov.: 32 AF XY: 0.00293 AC XY: 218AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 24, 2018 | - - |
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