NM_138425.4(C12orf57):c.229+25_229+43del AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 14, 2015
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:: RCV000202923.1

Allele description [Variation Report for NM_138425.4(C12orf57):c.229+25_229+43del]

NM_138425.4(C12orf57):c.229+25_229+43del

Gene:

C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_138425.4(C12orf57):c.229+25_229+43del

HGVS:

NC_000012.12:g.6944658TCAGACGCGGGAAGGCGGG[1]
NG_034262.1:g.5842TCAGACGCGGGAAGGCGGG[1]
NM_001301834.1:c.229+25_229+43del
NM_001301836.2:c.190+25_190+43del
NM_001301837.2:c.142+112_142+130del
NM_001301838.2:c.124+25_124+43del
NM_138425.4:c.229+25_229+43delMANE SELECT
NC_000012.11:g.7053818_7053836del
NC_000012.11:g.7053821TCAGACGCGGGAAGGCGGG[1]
NM_138425.2:c.229+3_229+21delGGGTCAGACGCGGGAAGGC
NM_138425.3:c.229+25_229+43del
NM_138425.3:c.229+25_229+43delTCAGACGCGGGAAGGCGGG

Links:

dbSNP: rs199730337

NCBI 1000 Genomes Browser:

rs199730337

Molecular consequence:

NM_001301834.1:c.229+25_229+43del - intron variant - [Sequence Ontology: SO:0001627]
NM_001301836.2:c.190+25_190+43del - intron variant - [Sequence Ontology: SO:0001627]
NM_001301837.2:c.142+112_142+130del - intron variant - [Sequence Ontology: SO:0001627]
NM_001301838.2:c.124+25_124+43del - intron variant - [Sequence Ontology: SO:0001627]
NM_138425.4:c.229+25_229+43del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258239	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely benign (Apr 14, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258239

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely benign
(Apr 14, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx

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 Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000258239.2

#	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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