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NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) AND Chudley-McCullough syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 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:
RCV001701798.2

Allele description [Variation Report for NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)]

NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)

Gene:
GPSM2:G protein signaling modulator 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p13.3
Genomic location:
Preferred name:
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)
HGVS:
  • NC_000001.10:g.109465166_109465168del
  • NC_000001.11:g.108922545TTC[1]
  • NG_028108.2:g.52196TTC[1]
  • NM_001321038.2:c.1569TTC[1]
  • NM_001321039.3:c.1569TTC[1]
  • NM_013296.5:c.1569TTC[1]MANE SELECT
  • NP_001307967.1:p.Ser525del
  • NP_001307968.1:p.Ser525del
  • NP_037428.3:p.Ser525del
  • LRG_1373t1:c.1569TTC[1]
  • LRG_1373:g.52196TTC[1]
  • LRG_1373p1:p.Ser525del
  • NC_000001.10:g.109465166_109465168del
  • NC_000001.10:g.109465167TTC[1]
  • NC_000001.10:g.109465170_109465172delTTC
  • NM_013296.4:c.1572_1574del
  • NM_013296.4:c.1572_1574delTTC
Protein change:
S525del
Links:
dbSNP: rs35029887
NCBI 1000 Genomes Browser:
rs35029887
Molecular consequence:
  • NM_001321038.2:c.1569TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321039.3:c.1569TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_013296.5:c.1569TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Chudley-McCullough syndrome (CMCS)
Synonyms:
Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, autosomal recessive 82
Identifiers:
MONDO: MONDO:0011411; MedGen: C1858695; Orphanet: 314597; OMIM: 604213

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001933935Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001933935.1

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

Last Updated: Oct 26, 2024