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NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 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:
RCV002490955.8

Allele description [Variation Report for NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)]

NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)

Gene:
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
HGVS:
  • NC_000007.14:g.94410278G>A
  • NG_007405.1:g.20718G>A
  • NM_000089.4:c.1072G>AMANE SELECT
  • NP_000080.2:p.Gly358Ser
  • NP_000080.2:p.Gly358Ser
  • LRG_2t1:c.1072G>A
  • LRG_2:g.20718G>A
  • LRG_2p1:p.Gly358Ser
  • NC_000007.13:g.94039590G>A
  • NM_000089.3:c.1072G>A
Protein change:
G358S
Links:
dbSNP: rs66619856
NCBI 1000 Genomes Browser:
rs66619856
Molecular consequence:
  • NM_000089.4:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
Synonyms:
Osteogenesis imperfecta type 4; OI type 4; Osteogenesis imperfecta with normal sclerae; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220
Name:
Osteogenesis imperfecta, perinatal lethal (OI2)
Synonyms:
OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210
Name:
Osteogenesis imperfecta type III (OI3)
Synonyms:
Osteogenesis imperfecta type 3; OI type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009804; MedGen: C0268362; Orphanet: 666; OMIM: 259420
Name:
Ehlers-Danlos syndrome, cardiac valvular type
Synonyms:
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Identifiers:
MONDO: MONDO:0009159; MedGen: C4303789; Orphanet: 230851; OMIM: 225320
Name:
Osteoporosis
Identifiers:
MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
Name:
Ehlers-danlos syndrome, arthrochalasia type, 2
Synonyms:
EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0040501; MedGen: CN293783; OMIM: 617821
Name:
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Synonyms:
OIEDS SYNDROME 2
Identifiers:
MONDO: MONDO:0030855; MedGen: C5436847; OMIM: 619120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002783179Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 13, 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, SCV002783179.1

#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: May 12, 2024