NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 24, 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:: RCV000624132.2

Allele description [Variation Report for NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs)]

NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs)

Gene:

ANOS1:anosmin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp22.31

Genomic location:

Preferred name:

NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs)

HGVS:

NC_000023.11:g.8731944_8731954dup
NG_007088.1:g.5240_5250dup
NG_007088.2:g.5240_5250dup
NM_000216.4:c.90_100dupMANE SELECT
NP_000207.2:p.Arg34fs
NC_000023.10:g.8699985_8699995dup
NM_000216.2:c.90_100dupTGCTGCGCGGC

Protein change:

R34fs

Links:

dbSNP: rs1555904596

NCBI 1000 Genomes Browser:

rs1555904596

Molecular consequence:

NM_000216.4:c.90_100dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742146	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jan 24, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742146

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jan 24, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000742146.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	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	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

ClinVar

Relating variation to medicine