NM_000534.5:c.315+6G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000534.5(PMS1):c.315+6G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0352 in 1,578,098 control chromosomes in the GnomAD database, including 1,236 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000534.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0311 AC: 4727AN: 152130Hom.: 113 Cov.: 32
GnomAD3 exomes AF: 0.0340 AC: 8538AN: 250968Hom.: 218 AF XY: 0.0326 AC XY: 4426AN XY: 135756
GnomAD4 exome AF: 0.0357 AC: 50856AN: 1425850Hom.: 1123 Cov.: 25 AF XY: 0.0350 AC XY: 24893AN XY: 711716
GnomAD4 genome AF: 0.0310 AC: 4724AN: 152248Hom.: 113 Cov.: 32 AF XY: 0.0322 AC XY: 2396AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at