NM_000088.4(COL1A1):c.-78_-77delinsAA AND Infantile cortical hyperostosis

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000372130.5

Allele description

NM_000088.4(COL1A1):c.-78_-77delinsAA

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.-78_-77delinsAA

HGVS:

NC_000017.11:g.50201590_50201591delinsTT
NG_007400.1:g.5049_5050delinsAA
NM_000088.4:c.-78_-77delinsAAMANE SELECT
LRG_1:g.5049_5050delinsAA
NC_000017.10:g.48278951_48278952delinsTT
NM_000088.3:c.-78_-77delGCinsAA

Links:

dbSNP: rs886053163

Molecular consequence:

NM_000088.4:c.-78_-77delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000404230	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000404230

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000404230.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 3, 2026

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