NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) AND Arthrogryposis multiplex congenita 6

Clinical significance:Benign (Last evaluated: Jul 10, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV001542983.3

Allele description [Variation Report for NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)]

NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)

Gene:

NEB:nebulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)

HGVS:

NC_000002.12:g.151575797T>C
NG_009382.2:g.163691A>G
NM_001164507.2:c.16911A>G
NM_001164508.2:c.16911A>GMANE SELECT
NM_001271208.2:c.16911A>G
NM_004543.5:c.11808A>G
NP_001157979.2:p.Pro5637=
NP_001157980.2:p.Pro5637=
NP_001258137.2:p.Pro5637=
NP_004534.3:p.Pro3936=
LRG_202t1:c.16911A>G
LRG_202:g.163691A>G
NC_000002.11:g.152432311T>C
NM_001271208.1:c.16911A>G
NM_004543.4:c.11808A>G
NP_004534.2:p.(=)
p.Pro5637Pro

Links:

dbSNP: rs33988153

NCBI 1000 Genomes Browser:

rs33988153

Molecular consequence:

NM_001164507.2:c.16911A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001164508.2:c.16911A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001271208.2:c.16911A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004543.5:c.11808A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Arthrogryposis multiplex congenita 6
Identifiers:: MONDO: MONDO:0030281; MedGen: C5543431; OMIM: 619334

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001761421	Genome-Nilou Lab	criteria provided, single submitter ACMG Guidelines, 2015	Benign (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001761421

Genome-Nilou Lab

criteria provided, single submitter

ACMG Guidelines, 2015

Benign
(Jul 10, 2021)

germline

clinical testing

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

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Genome-Nilou Lab, SCV001761421.1

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

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

Last Updated: Dec 24, 2022

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