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NM_000455.5(STK11):c.615G>A (p.Ala205=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 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:
RCV000759355.13

Allele description [Variation Report for NM_000455.5(STK11):c.615G>A (p.Ala205=)]

NM_000455.5(STK11):c.615G>A (p.Ala205=)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.615G>A (p.Ala205=)
Other names:
p.A205A:GCG>GCA
HGVS:
  • NC_000019.10:g.1220598G>A
  • NG_007460.2:g.36192G>A
  • NM_000455.5:c.615G>AMANE SELECT
  • NP_000446.1:p.Ala205=
  • NP_000446.1:p.Ala205=
  • LRG_319t1:c.615G>A
  • LRG_319:g.36192G>A
  • LRG_319p1:p.Ala205=
  • NC_000019.9:g.1220597G>A
  • NM_000455.4:c.615G>A
  • p.A205A
Links:
dbSNP: rs532889728
NCBI 1000 Genomes Browser:
rs532889728
Molecular consequence:
  • NM_000455.5:c.615G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000888641Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Nov 4, 2022) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.

Dragoš VŠ, Stegel V, Blatnik A, Klančar G, Krajc M, Novaković S.

Biology (Basel). 2021 Jul 23;10(8). doi:pii: 706. 10.3390/biology10080706.

PubMed [citation]
PMID:
34439939
PMCID:
PMC8389194
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888641.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024