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NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 12, 2014
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:
RCV000177101.4

Allele description [Variation Report for NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)]

NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)

Gene:
ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.1
Genomic location:
Preferred name:
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
HGVS:
  • NC_000008.11:g.27776455C>G
  • NG_008117.1:g.6915C>G
  • NM_001017420.3:c.147C>GMANE SELECT
  • NP_001017420.1:p.Cys49Trp
  • NC_000008.10:g.27633972C>G
  • NM_001017420.2:c.147C>G
Protein change:
C49W
Links:
dbSNP: rs201989984
NCBI 1000 Genomes Browser:
rs201989984
Molecular consequence:
  • NM_001017420.3:c.147C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000228925Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Dec 12, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000228925.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024