U.S. flag

An official website of the United States government

NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 29, 2021
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:
RCV002496856.2

Allele description [Variation Report for NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)]

NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)

Gene:
CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
HGVS:
  • NC_000002.12:g.232541424_232541425del
  • NG_012954.2:g.6733_6734del
  • NM_005199.5:c.401_402delMANE SELECT
  • NP_005190.4:p.Pro134fs
  • LRG_1275t1:c.401_402del
  • LRG_1275:g.6733_6734del
  • LRG_1275p1:p.Pro134fs
  • NC_000002.11:g.233406134_233406135del
  • NG_012954.1:g.6698_6699del
  • NM_005199.4:c.401_402del
  • NM_005199.4:c.401_402delCT
  • p.Pro134Argfs*43
Protein change:
P134fs
Links:
dbSNP: rs747067203
NCBI 1000 Genomes Browser:
rs747067203
Molecular consequence:
  • NM_005199.5:c.401_402del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive multiple pterygium syndrome
Synonyms:
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Multiple pterygium syndrome Escobar type; Multiple pterygium syndrome nonlethal type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009926; MedGen: C0265261; Orphanet: 2990; OMIM: 265000
Name:
Lethal multiple pterygium syndrome (LMPS)
Identifiers:
MONDO: MONDO:0009668; MedGen: C1854678; Orphanet: 33108; OMIM: 253290

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002813805Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 29, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002813805.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024