NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) AND Werdnig-Hoffmann disease

Germline classification:: Likely pathogenic (2 submissions)
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:: RCV000009737.6

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]

Observations:

Condition(s)

Name:: Werdnig-Hoffmann disease (SMA1)
Synonyms:: SMA I; Muscular atrophy, infantile; SMA, infantile acute form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009669; MedGen: C5848259; OMIM: 253300

Recent activity

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F410_gp029 [Erwinia phage vB_EamP-S6]
F410_gp029 [Erwinia phage vB_EamP-S6]
Gene ID:14013717

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029958	OMIM	no assertion criteria provided	Pathogenic (Jan 13, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000924369	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2016)	paternal, unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 7813012, 10732817, 15580564, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029958

OMIM

no assertion criteria provided

Pathogenic
(Jan 13, 1995)

germline

literature only

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

SCV000924369

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2016)

paternal, unknown

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	unknown	no	2	not provided	not provided	2	not provided	clinical testing
not provided	paternal	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

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

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

Rochette CF, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AH, Vanasse M, Simard LR.

Neurogenetics. 1997 Sep;1(2):141-7.

PubMed [citation]

PMID:: 10732817

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000029958.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

The first missense mutation discovered in the SMN1 gene in spinal muscular atrophy type I (253300) was a tyr272-to-cys (Y272C) mutation in exon 6, reported by Lefebvre et al. (1995).

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

From Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000924369.1

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

Description

1 copy SMN1 and a clinical diagnosis of spinal muscular atrophy Type 1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	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	no	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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