chr6-7727394-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001718.6(BMP6):āc.439A>Gā(p.Asn147Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000473 in 1,607,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N147S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001718.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMP6 | NM_001718.6 | c.439A>G | p.Asn147Asp | missense_variant | 1/7 | ENST00000283147.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMP6 | ENST00000283147.7 | c.439A>G | p.Asn147Asp | missense_variant | 1/7 | 1 | NM_001718.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000137 AC: 32AN: 233924Hom.: 0 AF XY: 0.000209 AC XY: 27AN XY: 129032
GnomAD4 exome AF: 0.0000495 AC: 72AN: 1455582Hom.: 0 Cov.: 32 AF XY: 0.0000691 AC XY: 50AN XY: 723856
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74402
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 15, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at