NM_000344.4(SMN1):c.469C>T (p.Gln157Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 14, 2018
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:: RCV000993025.2

Allele description

NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)

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.469C>T (p.Gln157Ter)

HGVS:

NC_000005.10:g.70942553C>T
NG_008691.1:g.22613C>T
NM_000344.4:c.469C>TMANE SELECT
NM_001297715.1:c.469C>T
NM_022874.2:c.469C>T
NP_000335.1:p.Gln157Ter
NP_000335.1:p.Gln157Ter
NP_001284644.1:p.Gln157Ter
NP_075012.1:p.Gln157Ter
LRG_676t1:c.469C>T
LRG_676:g.22613C>T
LRG_676p1:p.Gln157Ter
NC_000005.9:g.70238380C>T
NM_000344.3:c.469C>T

Protein change:

Q157*

Links:

dbSNP: rs1580886973

NCBI 1000 Genomes Browser:

rs1580886973

Molecular consequence:

NM_000344.4:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001297715.1:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_022874.2:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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deoxyguanosine kinase [Epulopiscium sp. SCG-C06WGA-EpuloA1]
deoxyguanosine kinase [Epulopiscium sp. SCG-C06WGA-EpuloA1]
gi|1139890576|gb|ONI48045.1||gnl|WG H|AN644_00330

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001145721	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Nov 14, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25525159, 19050931, 18172693, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001145721

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Nov 14, 2018)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF.

Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3.

PubMed [citation]

PMID:: 19050931

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001145721.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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