17-30249058-T-C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_000386.4(BLMH):āc.1327A>Gā(p.Ile443Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.314 in 1,613,660 control chromosomes in the GnomAD database, including 81,680 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000386.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLMH | NM_000386.4 | c.1327A>G | p.Ile443Val | missense_variant | 12/12 | ENST00000261714.11 | |
LOC105371720 | XR_001752824.2 | n.892-729T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105371720 | XR_007065695.1 | n.756-729T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105371720 | XR_007065698.1 | n.756-3016T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLMH | ENST00000261714.11 | c.1327A>G | p.Ile443Val | missense_variant | 12/12 | 1 | NM_000386.4 | P1 | |
ENST00000577420.1 | n.61-3016T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
BLMH | ENST00000578795.1 | n.1226A>G | non_coding_transcript_exon_variant | 1/1 | |||||
BLMH | ENST00000578090.5 | c.*1001A>G | 3_prime_UTR_variant, NMD_transcript_variant | 11/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.290 AC: 43985AN: 151934Hom.: 6767 Cov.: 31
GnomAD3 exomes AF: 0.303 AC: 76102AN: 251188Hom.: 12113 AF XY: 0.300 AC XY: 40786AN XY: 135732
GnomAD4 exome AF: 0.317 AC: 463437AN: 1461608Hom.: 74895 Cov.: 38 AF XY: 0.315 AC XY: 229085AN XY: 727122
GnomAD4 genome ? AF: 0.290 AC: 44033AN: 152052Hom.: 6785 Cov.: 31 AF XY: 0.287 AC XY: 21299AN XY: 74324
ClinVar
Submissions by phenotype
BLEOMYCIN HYDROLASE POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | May 28, 1996 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at