NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 12, 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:: RCV000202886.5

Allele description [Variation Report for NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)]

NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)

Gene:

DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.2

Genomic location:

Preferred name:

NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)

HGVS:

NC_000007.14:g.154853824A>C
NG_033878.2:g.1110839A>C
NM_001039350.3:c.1519A>C
NM_001290252.2:c.1390A>C
NM_001364497.2:c.1528A>C
NM_001364498.2:c.1528A>C
NM_001364499.2:c.1528A>C
NM_001364500.2:c.1528A>C
NM_001936.4:c.1525A>C
NM_001936.5:c.1525A>C
NM_130797.4:c.1711A>CMANE SELECT
NP_001034439.1:p.Lys507Gln
NP_001277181.1:p.Lys464Gln
NP_001351426.1:p.Lys510Gln
NP_001351427.1:p.Lys510Gln
NP_001351428.1:p.Lys510Gln
NP_001351429.1:p.Lys510Gln
NP_001927.3:p.Lys509Gln
NP_570629.2:p.Lys571Gln
NC_000007.13:g.154645534A>C
NM_001039350.1:c.1519A>C
NR_157195.2:n.2161A>C
NR_157196.2:n.1861A>C

Protein change:

K464Q

Links:

dbSNP: rs140460765

NCBI 1000 Genomes Browser:

rs140460765

Molecular consequence:

NM_001039350.3:c.1519A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001290252.2:c.1390A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001364497.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001364498.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001364499.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001364500.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001936.5:c.1525A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130797.4:c.1711A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_157195.2:n.2161A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157196.2:n.1861A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000257755	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Uncertain significance (Oct 12, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV001952258	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000257755

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

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Uncertain significance
(Oct 12, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV001952258

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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, SCV000257755.5

#	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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952258.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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