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NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2023
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:
RCV000518253.5

Allele description [Variation Report for NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)]

NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
HGVS:
  • NC_000005.10:g.70946157A>G
  • NG_008691.1:g.26217A>G
  • NM_000344.4:c.815A>GMANE SELECT
  • NM_001297715.1:c.815A>G
  • NM_022874.2:c.719A>G
  • NP_000335.1:p.Tyr272Cys
  • NP_000335.1:p.Tyr272Cys
  • NP_001284644.1:p.Tyr272Cys
  • NP_075012.1:p.Tyr240Cys
  • LRG_676t1:c.815A>G
  • LRG_676:g.26217A>G
  • LRG_676p1:p.Tyr272Cys
  • NC_000005.9:g.70241984A>G
  • NM_000344.3:c.815A>G
  • Q16637:p.Tyr272Cys
  • p.TYR272CYS
Protein change:
Y240C; TYR272CYS
Links:
UniProtKB: Q16637#VAR_005617; OMIM: 600354.0004; dbSNP: rs104893922
NCBI 1000 Genomes Browser:
rs104893922
Molecular consequence:
  • NM_000344.4:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000615355Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jun 1, 2023) 		unknownclinical testing

PubMed (23)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification and characterization of a spinal muscular atrophy-determining gene.

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.

Cell. 1995 Jan 13;80(1):155-65.

PubMed [citation]
PMID:
7813012

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

Hua Y, Zhou J.

Biochem Biophys Res Commun. 2004 Jan 30;314(1):268-76.

PubMed [citation]
PMID:
14715275
See all PubMed Citations (23)

Details of each submission

From Athena Diagnostics, SCV000615355.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (23)

Description

Frequency data for this variant in the general population cannot be distinguished from that of the SMN2 gene, and is therefore uninformative in assessment of variant pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Studies show this variant causes reduced self-oligomerization, and reduced binding to Sm proteins (PMID: 9590291, 10500148).

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

Last Updated: Sep 29, 2024