U.S. flag

An official website of the United States government

NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001824937.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)]

NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)

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.4067G>A (p.Arg1356His)
HGVS:
  • NC_000017.11:g.50185959C>T
  • NG_007400.1:g.20681G>A
  • NM_000088.4:c.4067G>AMANE SELECT
  • NP_000079.2:p.Arg1356His
  • LRG_1t1:c.4067G>A
  • LRG_1:g.20681G>A
  • NC_000017.10:g.48263320C>T
  • NM_000088.3:c.4067G>A
Protein change:
R1356H
Links:
dbSNP: rs149820303
NCBI 1000 Genomes Browser:
rs149820303
Molecular consequence:
  • NM_000088.4:c.4067G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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, cardiac valvular type
Synonyms:
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Identifiers:
MONDO: MONDO:0009159; MedGen: C4303789; Orphanet: 230851; OMIM: 225320
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 (OI)
Identifiers:
MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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
SCV002075221GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075221.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 07-01-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Sep 29, 2024