U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Jun 14, 2024
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:
RCV001703385.3

Allele description [Variation Report for NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)]

NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)
Other names:
p.Asp28338Asn
HGVS:
  • NC_000002.12:g.178548910C>T
  • NG_011618.3:g.286893G>A
  • NG_051363.1:g.31084C>T
  • NM_001256850.1:c.87793G>A
  • NM_001267550.2:c.92716G>AMANE SELECT
  • NM_003319.4:c.65521G>A
  • NM_133378.4:c.85012G>A
  • NM_133432.3:c.65896G>A
  • NM_133437.4:c.66097G>A
  • NP_001243779.1:p.Asp29265Asn
  • NP_001254479.2:p.Asp30906Asn
  • NP_003310.4:p.Asp21841Asn
  • NP_596869.4:p.Asp28338Asn
  • NP_597676.3:p.Asp21966Asn
  • NP_597681.4:p.Asp22033Asn
  • LRG_391:g.286893G>A
  • NC_000002.11:g.179413637C>T
  • NM_133378.4:c.85012G>A
Protein change:
D21841N
Links:
dbSNP: rs534881266
NCBI 1000 Genomes Browser:
rs534881266
Molecular consequence:
  • NM_001256850.1:c.87793G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.92716G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.65521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.85012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.65896G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.66097G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001927568Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001967999Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV005412992Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 14, 2024)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927568.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967999.1

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV005412992.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

BP4, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 30, 2024