chr22-43972861-C-T
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015380.5(SAMM50):c.430-10C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.5 in 1,539,410 control chromosomes in the GnomAD database, including 180,360 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.58 ( 26107 hom., cov: 31)
Exomes 𝑓: 0.49 ( 154253 hom. )
Consequence
SAMM50
NM_015380.5 splice_polypyrimidine_tract, intron
NM_015380.5 splice_polypyrimidine_tract, intron
Scores
2
Splicing: ADA: 0.00001562
2
Clinical Significance
Conservation
PhyloP100: -0.596
Genes affected
SAMM50 (HGNC:24276): (SAMM50 sorting and assembly machinery component) This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
Variant 22-43972861-C-T is Benign according to our data. Variant chr22-43972861-C-T is described in ClinVar as [Benign]. Clinvar id is 769164.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.806 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SAMM50 | NM_015380.5 | c.430-10C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000350028.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SAMM50 | ENST00000350028.5 | c.430-10C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_015380.5 | P1 | |||
SAMM50 | ENST00000493161.1 | n.612-10C>T | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.582 AC: 87338AN: 150120Hom.: 26062 Cov.: 31
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GnomAD3 exomes AF: 0.506 AC: 103392AN: 204356Hom.: 22253 AF XY: 0.502 AC XY: 56059AN XY: 111780
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GnomAD4 exome AF: 0.491 AC: 681980AN: 1389184Hom.: 154253 Cov.: 35 AF XY: 0.494 AC XY: 341534AN XY: 691296
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GnomAD4 genome AF: 0.582 AC: 87432AN: 150226Hom.: 26107 Cov.: 31 AF XY: 0.587 AC XY: 43057AN XY: 73298
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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dbscSNV1_ADA
Benign
dbscSNV1_RF
Benign
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at