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NM_001198800.3(ASCC1):c.747-10A>G AND Spinal muscular atrophy with congenital bone fractures 2

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004796700.1

Allele description [Variation Report for NM_001198800.3(ASCC1):c.747-10A>G]

NM_001198800.3(ASCC1):c.747-10A>G

Gene:
ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_001198800.3(ASCC1):c.747-10A>G
HGVS:
  • NC_000010.11:g.72133191T>C
  • NG_031890.1:g.88944A>G
  • NM_001198798.2:c.747-10A>G
  • NM_001198799.3:c.831-10A>G
  • NM_001198800.3:c.747-10A>GMANE SELECT
  • NM_001369085.1:c.813-10A>G
  • NM_001369086.1:c.813-10A>G
  • NM_001369087.1:c.747-10A>G
  • NM_001369088.1:c.747-10A>G
  • NM_001369089.1:c.747-10A>G
  • NM_001369090.1:c.747-10A>G
  • NM_001369091.1:c.747-10A>G
  • NM_001369092.1:c.747-10A>G
  • NM_001369093.1:c.747-10A>G
  • NM_001369094.1:c.747-10A>G
  • NM_001369095.1:c.747-10A>G
  • NM_001369096.1:c.747-10A>G
  • NM_001369097.1:c.747-10A>G
  • NM_001369098.1:c.747-10A>G
  • NM_001369099.1:c.693-10A>G
  • NM_001369100.1:c.627-10A>G
  • NM_001369101.1:c.630-10A>G
  • NM_001369102.1:c.630-10A>G
  • NM_001369103.1:c.627-10A>G
  • NM_001369104.1:c.627-10A>G
  • NM_001369105.1:c.630-10A>G
  • NM_001369106.1:c.630-10A>G
  • NM_001369107.1:c.630-10A>G
  • NM_001369108.1:c.627-10A>G
  • NM_001369109.1:c.627-10A>G
  • NM_001369110.1:c.747-10A>G
  • NM_001369111.1:c.747-10A>G
  • NM_001369112.1:c.627-10A>G
  • NC_000010.10:g.73892949T>C
Links:
dbSNP: rs768398422
NCBI 1000 Genomes Browser:
rs768398422
Molecular consequence:
  • NM_001198798.2:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001198799.3:c.831-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001198800.3:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369085.1:c.813-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369086.1:c.813-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369087.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369088.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369089.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369090.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369091.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369092.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369093.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369094.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369095.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369096.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369097.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369098.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369099.1:c.693-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369100.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369101.1:c.630-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369102.1:c.630-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369103.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369104.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369105.1:c.630-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369106.1:c.630-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369107.1:c.630-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369108.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369109.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369110.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369111.1:c.747-10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369112.1:c.627-10A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Identifiers:
MONDO: MONDO:0014807; MedGen: C4225176; OMIM: 616867

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005417925Juno Genomics, Hangzhou Juno Genomics, Inc
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005417925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PM2_Supporting+PP3+PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2024