U.S. flag

An official website of the United States government

NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000162116.3

Allele description [Variation Report for NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala)]

NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala)

Gene:
MATN4:matrilin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala)
HGVS:
  • NC_000020.11:g.45304356C>G
  • NG_033953.1:g.9174G>C
  • NM_001393530.1:c.515G>CMANE SELECT
  • NM_001393531.1:c.515G>C
  • NM_003833.5:c.515G>C
  • NM_030590.4:c.515G>C
  • NM_030592.4:c.515G>C
  • NP_001380459.1:p.Gly172Ala
  • NP_001380460.1:p.Gly172Ala
  • NP_003824.2:p.Gly172Ala
  • NP_085080.1:p.Gly172Ala
  • NP_085095.1:p.Gly172Ala
  • NC_000020.10:g.43932996C>G
  • NM_030590.3:c.515G>C
Protein change:
G172A
Links:
dbSNP: rs730882210
NCBI 1000 Genomes Browser:
rs730882210
Molecular consequence:
  • NM_001393530.1:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393531.1:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003833.5:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030590.4:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030592.4:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Holoprosencephaly sequence (HPE)
Synonyms:
ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Proptosis
Synonyms:
Exophthalmos
Identifiers:
MONDO: MONDO:0004770; MedGen: C0015300; Human Phenotype Ontology: HP:0000520
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Diabetes insipidus
Identifiers:
MONDO: MONDO:0004782; MedGen: C0011848; Human Phenotype Ontology: HP:0000873
Name:
Lumbosacral myelomeningocele
Identifiers:
MedGen: CN228305

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
SCV000196401Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided

(research)		Likely pathogenic
(Dec 1, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25558065

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000196401.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024