U.S. flag

An official website of the United States government

NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser) AND Intellectual disability, autosomal dominant 33

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2022
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:
RCV002776542.2

Allele description [Variation Report for NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)]

NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)

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.1033C>T (p.Pro345Ser)
HGVS:
  • NC_000007.14:g.154769566C>T
  • NG_033878.2:g.1026581C>T
  • NM_001039350.3:c.841C>T
  • NM_001290252.2:c.712C>T
  • NM_001364497.2:c.850C>T
  • NM_001364498.2:c.850C>T
  • NM_001364499.2:c.850C>T
  • NM_001364500.2:c.850C>T
  • NM_001364501.2:c.841C>T
  • NM_001936.5:c.847C>T
  • NM_130797.4:c.1033C>TMANE SELECT
  • NP_001034439.1:p.Pro281Ser
  • NP_001277181.1:p.Pro238Ser
  • NP_001351426.1:p.Pro284Ser
  • NP_001351427.1:p.Pro284Ser
  • NP_001351428.1:p.Pro284Ser
  • NP_001351429.1:p.Pro284Ser
  • NP_001351430.1:p.Pro281Ser
  • NP_001927.3:p.Pro283Ser
  • NP_570629.2:p.Pro345Ser
  • NC_000007.13:g.154561276C>T
  • NR_157195.2:n.1483C>T
  • NR_157196.2:n.1183C>T
Protein change:
P238S
Molecular consequence:
  • NM_001039350.3:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290252.2:c.712C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364497.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364498.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364499.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364500.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364501.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001936.5:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130797.4:c.1033C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_157195.2:n.1483C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157196.2:n.1183C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual disability, autosomal dominant 33 (MRD33)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33
Identifiers:
MONDO: MONDO:0014580; MedGen: C4225375; OMIM: 616311

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003035384Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Dec 6, 2022) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024