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NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 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:
RCV002498987.8

Allele description [Variation Report for NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)]

NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
HGVS:
  • NC_000017.11:g.50192682G>A
  • NG_007400.1:g.13958C>T
  • NM_000088.4:c.1887C>TMANE SELECT
  • NP_000079.2:p.Gly629=
  • NP_000079.2:p.Gly629=
  • LRG_1t1:c.1887C>T
  • LRG_1:g.13958C>T
  • LRG_1p1:p.Gly629=
  • NC_000017.10:g.48270043G>A
  • NM_000088.3:c.1887C>T
Links:
dbSNP: rs375695940
NCBI 1000 Genomes Browser:
rs375695940
Molecular consequence:
  • NM_000088.4:c.1887C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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:
Infantile cortical hyperostosis
Synonyms:
Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE; Caffey Disease
Identifiers:
MONDO: MONDO:0007244; MedGen: C0020497; Orphanet: 1310; OMIM: 114000
Name:
Ehlers-Danlos syndrome, arthrochalasia type
Synonyms:
EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; Arthrochalasis multiplex congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007525; MedGen: C4551623; Orphanet: 1899; Orphanet: 99875; Orphanet: 99876; OMIM: 130060
Name:
Osteogenesis imperfecta type I (OI1)
Synonyms:
OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200
Name:
Osteoporosis
Identifiers:
MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
Name:
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Synonyms:
OIEDS SYNDROME 1
Identifiers:
MONDO: MONDO:0030854; MedGen: C5436842; OMIM: 619115

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002806680Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 4, 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, SCV002806680.1

#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: Nov 3, 2024