NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) AND Atelosteogenesis type II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 18, 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:: RCV000412349.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)]

NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)

Gene:

SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)

HGVS:

NC_000005.10:g.149981130_149981134dup
NG_007147.2:g.22248_22252dup
NM_000112.4:c.1537_1541dupMANE SELECT
NP_000103.2:p.Ile514fs
LRG_684:g.22248_22252dup
NC_000005.9:g.149360692_149360693insGTTAT
NC_000005.9:g.149360693_149360697dup

Protein change:

I514fs

Links:

dbSNP: rs1057517511

NCBI 1000 Genomes Browser:

rs1057517511

Molecular consequence:

NM_000112.4:c.1537_1541dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Atelosteogenesis type II (AO2)
Synonyms:: NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1; Atelosteogenesis type 2
Identifiers:: MONDO: MONDO:0009727; MedGen: C1850554; Orphanet: 56304; OMIM: 256050

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Mus musculus Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (...
Mus musculus Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (Rassf8), mRNA
gi|1393428305|ref|NM_027760.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487666	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jul 18, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487666

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Jul 18, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000487666.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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