NM_007078.3(LDB3):c.1422G>A (p.Ser474=) AND not provided

Clinical significance:Benign (Last evaluated: Feb 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000860874.3

Allele description [Variation Report for NM_007078.3(LDB3):c.1422G>A (p.Ser474=)]

NM_007078.3(LDB3):c.1422G>A (p.Ser474=)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
HGVS:
  • NC_000010.11:g.86716517G>A
  • NG_008876.1:g.52954G>A
  • NM_001080114.2:c.1092G>A
  • NM_001080116.1:c.*17143G>A
  • NM_001171610.2:c.1437G>A
  • NM_001368064.1:c.1233G>A
  • NM_001368065.1:c.1233G>A
  • NM_001368066.1:c.1281G>A
  • NM_007078.3:c.1422G>AMANE SELECT
  • NP_001073583.1:p.Ser364=
  • NP_001165081.1:p.Ser479=
  • NP_001354993.1:p.Ser411=
  • NP_001354994.1:p.Ser411=
  • NP_001354995.1:p.Ser427=
  • NP_009009.1:p.Ser474=
  • LRG_385t1:c.1422G>A
  • LRG_385t2:c.*17143G>A
  • LRG_385:g.52954G>A
  • NC_000010.10:g.88476274G>A
  • NM_007078.2:c.1422G>A
  • c.1422G>A
Links:
dbSNP: rs142625982
NCBI 1000 Genomes Browser:
rs142625982
Molecular consequence:
  • NM_001080116.1:c.*17143G>A - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
  • NM_001080114.2:c.1092G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171610.2:c.1437G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368064.1:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368065.1:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368066.1:c.1281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007078.3:c.1422G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001001046Invitaecriteria provided, single submitter
Benign
(Feb 22, 2019)
germlineclinical testing

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

SCV001744335Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001829898GeneDxno assertion criteria provided
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001001046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744335.3

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

From GeneDx, SCV001829898.1

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

Last Updated: Sep 7, 2021

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