10-86756838-T-C
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_004329.3(BMPR1A):c.-349T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 151,312 control chromosomes in the GnomAD database, including 7,835 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004329.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.299 AC: 45118AN: 151090Hom.: 7829 Cov.: 32
GnomAD4 exome AF: 0.158 AC: 18AN: 114Hom.: 1 Cov.: 0 AF XY: 0.174 AC XY: 15AN XY: 86
GnomAD4 genome AF: 0.299 AC: 45141AN: 151198Hom.: 7834 Cov.: 32 AF XY: 0.305 AC XY: 22534AN XY: 73866
ClinVar
Submissions by phenotype
not provided Benign:2
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Generalized juvenile polyposis/juvenile polyposis coli Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at