NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) AND Agenesis of the corpus callosum with peripheral neuropathy

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 28, 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:: RCV000408984.1

Allele description

NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs)

Gene:

SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs)

HGVS:

NC_000015.10:g.34236022dup
NG_007951.1:g.107043dup
NM_001042494.2:c.3043dup
NM_001042495.2:c.3043dup
NM_001042496.2:c.3193dup
NM_001042497.2:c.3175dup
NM_001365088.1:c.3220dupMANE SELECT
NM_005135.2:c.3067dup
NM_133647.2:c.3220dup
NP_001035959.1:p.Met1015fs
NP_001035960.1:p.Met1015fs
NP_001035961.1:p.Met1065fs
NP_001035962.1:p.Met1059fs
NP_001352017.1:p.Met1074fs
NP_005126.1:p.Met1023fs
NP_598408.1:p.Met1074fs
LRG_270t1:c.3067dup
LRG_270:g.107043dup
LRG_270p1:p.Met1023fs
NC_000015.9:g.34528223dup
NM_133647.1:c.3220dupA

Protein change:

M1015fs

Links:

dbSNP: rs1057517289

NCBI 1000 Genomes Browser:

rs1057517289

Molecular consequence:

NM_001042494.2:c.3043dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042495.2:c.3043dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042496.2:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042497.2:c.3175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365088.1:c.3220dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005135.2:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133647.2:c.3220dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
Synonyms:: Andermann syndrome; Charlevoix disease; Corpus callosum agenesis neuronopathy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0000902; MedGen: C0795950; Orphanet: 1496; OMIM: 218000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487051	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Sep 28, 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

SCV000487051

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Sep 28, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

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, SCV000487051.1

#	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: Apr 23, 2022

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