NM_000088.4(COL1A1):c.*681_*682insAGCA AND Infantile cortical hyperostosis

NM_000088.4(COL1A1):c.681_682insAGCA AND Infantile cortical hyperostosis

Germline classification:: Likely benign (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:: RCV000351512.5

Allele description [Variation Report for NM_000088.4(COL1A1):c.681_682insAGCA]

NM_000088.4(COL1A1):c.681_682insAGCA

Gene:

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

Variant type:

Insertion

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.*681_*682insAGCA

HGVS:

NC_000017.11:g.50184822_50184823insCTTG
NG_007400.1:g.21819_21820insAGCA
NM_000088.4:c.*681_*682insAGCAMANE SELECT
LRG_1t1:c.*681_*682insAGCA
LRG_1:g.21819_21820insAGCA
NC_000017.10:g.48262183_48262184insCTTG
NM_000088.3:c.*681_*682insAGCA

Links:

dbSNP: rs3840870

NCBI 1000 Genomes Browser:

rs3840870

Molecular consequence:

NM_000088.4:c.*681_*682insAGCA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

Recent activity

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JG14_1
JG14_1

biosample
Saprolegnia delica strain ABDN_69 18S ribosomal RNA gene, partial sequence; inte...
Saprolegnia delica strain ABDN_69 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|536725639|gb|KF420262.1|

Nucleotide
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-inte...
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 isoform X1 [Homo sapiens]
gi|2462622758|ref|XP_054218010.1|

Protein
PREDICTED: Rattus norvegicus activating transcription factor 3 (Atf3), transcrip...
PREDICTED: Rattus norvegicus activating transcription factor 3 (Atf3), transcript variant X1, mRNA
gi|2678890838|ref|XM_039090385.2|

Nucleotide
UNVERIFIED: Parapetalocephala sp. 1 XYW-2023a mitochondrion sequence
UNVERIFIED: Parapetalocephala sp. 1 XYW-2023a mitochondrion sequence
gi|2701068774|gb|OK075162.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000404032	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (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

SCV000404032

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000404032.2

#	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: Sep 1, 2024

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