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NM_182522.5(TAFA4):c.190A>G (p.Lys64Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 2021
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:
RCV004468920.1

Allele description [Variation Report for NM_182522.5(TAFA4):c.190A>G (p.Lys64Glu)]

NM_182522.5(TAFA4):c.190A>G (p.Lys64Glu)

Gene:
TAFA4:TAFA chemokine like family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.1
Genomic location:
Preferred name:
NM_182522.5(TAFA4):c.190A>G (p.Lys64Glu)
HGVS:
  • NC_000003.12:g.68752959T>C
  • NM_001005527.3:c.190A>G
  • NM_182522.5:c.190A>GMANE SELECT
  • NP_001005527.1:p.Lys64Glu
  • NP_872328.1:p.Lys64Glu
  • NC_000003.11:g.68802110T>C
  • NM_182522.3:c.190A>G
Protein change:
K64E
Molecular consequence:
  • NM_001005527.3:c.190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182522.5:c.190A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004962803Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 21, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004962803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.190A>G (p.K64E) alteration is located in exon 4 (coding exon 3) of the FAM19A4 gene. This alteration results from a A to G substitution at nucleotide position 190, causing the lysine (K) at amino acid position 64 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024