chr10-99929961-T-C
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Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_015221.4(DNMBP):c.2261-20815A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00159 in 702,916 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Genomes: 𝑓 0.00062 ( 1 hom., cov: 32)
Exomes 𝑓: 0.0019 ( 23 hom. )
Consequence
DNMBP
NM_015221.4 intron
NM_015221.4 intron
Scores
6
Clinical Significance
Conservation
PhyloP100: -0.892
Genes affected
DNMBP (HGNC:30373): (dynamin binding protein) This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -9 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.0045203567).
BP6
Variant 10-99929961-T-C is Benign according to our data. Variant chr10-99929961-T-C is described in ClinVar as [Benign]. Clinvar id is 3039087.Status of the report is no_assertion_criteria_provided, 0 stars.
BS2
High Homozygotes in GnomAdExome4 at 23 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNMBP | NM_015221.4 | c.2261-20815A>G | intron_variant | ENST00000324109.9 | NP_056036.1 | |||
DNMBP-AS1 | NR_024130.3 | n.176+1721T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNMBP | ENST00000324109.9 | c.2261-20815A>G | intron_variant | 1 | NM_015221.4 | ENSP00000315659 | P1 | |||
DNMBP-AS1 | ENST00000661385.1 | n.222+1721T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000631 AC: 96AN: 152220Hom.: 1 Cov.: 32
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GnomAD3 exomes AF: 0.00251 AC: 337AN: 134144Hom.: 5 AF XY: 0.00335 AC XY: 245AN XY: 73056
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GnomAD4 exome AF: 0.00187 AC: 1027AN: 550578Hom.: 23 Cov.: 0 AF XY: 0.00255 AC XY: 760AN XY: 298060
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GnomAD4 genome AF: 0.000617 AC: 94AN: 152338Hom.: 1 Cov.: 32 AF XY: 0.000711 AC XY: 53AN XY: 74498
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
DNMBP-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | May 28, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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Name
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BayesDel_noAF
Benign
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Benign
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Benign
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N
LIST_S2
Benign
T
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Benign
T
MutationTaster
Benign
N;N;N
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at