NM_000344.4(SMN1):c.796T>C (p.Ser266Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2016
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:: RCV000785804.2

Allele description [Variation Report for NM_000344.4(SMN1):c.796T>C (p.Ser266Pro)]

NM_000344.4(SMN1):c.796T>C (p.Ser266Pro)

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.796T>C (p.Ser266Pro)

HGVS:

NC_000005.10:g.70946138T>C
NG_008691.1:g.26198T>C
NM_000344.4:c.796T>CMANE SELECT
NM_001297715.1:c.796T>C
NM_022874.2:c.700T>C
NP_000335.1:p.Ser266Pro
NP_000335.1:p.Ser266Pro
NP_001284644.1:p.Ser266Pro
NP_075012.1:p.Ser234Pro
LRG_676t1:c.796T>C
LRG_676:g.26198T>C
LRG_676p1:p.Ser266Pro
NC_000005.9:g.70241965T>C
NM_000344.3:c.796T>C

Protein change:

S234P

Links:

dbSNP: rs1561500885

NCBI 1000 Genomes Browser:

rs1561500885

Molecular consequence:

NM_000344.4:c.796T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001297715.1:c.796T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022874.2:c.700T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924372	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2016)	biparental, unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17761649, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924372

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2016)

biparental, unknown

clinical testing

PubMed (2)
[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	unknown	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	biparental	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	no	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Spinal muscular atrophy diagnostics.

Prior TW.

J Child Neurol. 2007 Aug;22(8):952-6. Review.

PubMed [citation]

PMID:: 17761649

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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000924372.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)
2	not provided	1	not provided	not provided	clinical testing	PubMed (2)
3	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

negative deletion analysis, found in trans with c.316G>A

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	biparental	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	unknown	no	1	not provided	not provided		1	not provided	not provided	not provided
3	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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