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NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626590.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)]

NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)

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.1777G>A (p.Gly593Ser)
Other names:
G415S
HGVS:
  • NC_000017.11:g.50193038C>T
  • NG_007400.1:g.13602G>A
  • NM_000088.4:c.1777G>AMANE SELECT
  • NP_000079.2:p.Gly593Ser
  • NP_000079.2:p.Gly593Ser
  • LRG_1t1:c.1777G>A
  • LRG_1:g.13602G>A
  • LRG_1p1:p.Gly593Ser
  • NC_000017.10:g.48270399C>T
  • NM_000088.3:c.1777G>A
Protein change:
G593S; GLY415SER
Links:
OMIM: 120150.0044; dbSNP: rs66527965
NCBI 1000 Genomes Browser:
rs66527965
Molecular consequence:
  • NM_000088.4:c.1777G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Name:
Cranial asymmetry
Identifiers:
MedGen: C1860245; Human Phenotype Ontology: HP:0000267
Name:
Pathologic fracture
Identifiers:
MedGen: C0016663; Human Phenotype Ontology: HP:0002756
Name:
Abnormal pinna morphology
Synonyms:
Abnormality of the pinna; Bilateral external ear deformity
Identifiers:
MedGen: C0857379; Human Phenotype Ontology: HP:0000377
Name:
Anteverted nares
Identifiers:
MedGen: C1840077; Human Phenotype Ontology: HP:0000463
Name:
Blue sclerae
Identifiers:
MedGen: C0542514; Human Phenotype Ontology: HP:0000592
Name:
Broad forehead
Identifiers:
MedGen: C1849089; Human Phenotype Ontology: HP:0000337
Name:
Depressed nasal bridge
Synonyms:
Flattened nasal bridge; Flat nasal bridge; low nasal bridge
Identifiers:
MedGen: C1836542; Human Phenotype Ontology: HP:0005280
Name:
Downslanted palpebral fissures
Identifiers:
MedGen: C0423110; Human Phenotype Ontology: HP:0000494
Name:
Flat occiput
Identifiers:
MedGen: C1837402; Human Phenotype Ontology: HP:0005469
Name:
Premature birth
Identifiers:
MedGen: C0151526; Human Phenotype Ontology: HP:0001622
Name:
Triangular face
Identifiers:
MedGen: C1835884; Human Phenotype Ontology: HP:0000325
Name:
Wide anterior fontanel
Identifiers:
MedGen: C1866134; Human Phenotype Ontology: HP:0000260
Name:
Low-set, posteriorly rotated ears
Identifiers:
MedGen: C1857486; Human Phenotype Ontology: HP:0000368
Name:
Osteopenia
Identifiers:
MedGen: C0029453; Human Phenotype Ontology: HP:0000938
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Bowing of limbs due to multiple fractures
Identifiers:
MedGen: C1850178; Human Phenotype Ontology: HP:0003023
Name:
Fractures of the long bones
Identifiers:
MedGen: C0240231; Human Phenotype Ontology: HP:0003084
Name:
Craniofacial disproportion
Identifiers:
MedGen: C1867114; Human Phenotype Ontology: HP:0005461
Name:
Decreased calvarial ossification
Identifiers:
MedGen: C1833762; Human Phenotype Ontology: HP:0005474
Name:
Crumpled long bones
Identifiers:
MedGen: C1970497; Human Phenotype Ontology: HP:0006367
Name:
Maternal hypertension
Identifiers:
MedGen: C0565599; Human Phenotype Ontology: HP:0008071
Name:
Rhizomelia
Identifiers:
MedGen: C1866730; Human Phenotype Ontology: HP:0008905
Name:
Neonatal short-limb short stature
Identifiers:
MedGen: C1850171; Human Phenotype Ontology: HP:0008921
Name:
Wide cranial sutures
Identifiers:
MedGen: C0410935; Human Phenotype Ontology: HP:0010537
Name:
Neonatal asphyxia
Synonyms:
Postnatal asphyxia; Asphyxia neonatorum; Hypoxia neonatorum; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0006663; MedGen: C0004045; Human Phenotype Ontology: HP:0012768

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747291Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747291.1

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

Last Updated: May 7, 2024