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NM_001114734.2(PABPC4L):c.606T>A (p.Asp202Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2023
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:
RCV004497687.1

Allele description [Variation Report for NM_001114734.2(PABPC4L):c.606T>A (p.Asp202Glu)]

NM_001114734.2(PABPC4L):c.606T>A (p.Asp202Glu)

Gene:
PABPC4L:poly(A) binding protein cytoplasmic 4 like [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.3
Genomic location:
Preferred name:
NM_001114734.2(PABPC4L):c.606T>A (p.Asp202Glu)
HGVS:
  • NC_000004.12:g.134200414A>T
  • NM_001114734.2:c.606T>AMANE SELECT
  • NM_001363585.1:c.606T>A
  • NP_001108206.3:p.Asp202Glu
  • NP_001350514.1:p.Asp202Glu
  • NC_000004.11:g.135121569A>T
  • NM_001114734.1:c.780T>A
  • NR_003550.1:n.863T>A
Protein change:
D202E
Molecular consequence:
  • NM_001114734.2:c.606T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363585.1:c.606T>A - 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
SCV004999636Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2023) 		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, SCV004999636.1

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

Description

The c.780T>A (p.D260E) alteration is located in exon 2 (coding exon 1) of the PABPC4L gene. This alteration results from a T to A substitution at nucleotide position 780, causing the aspartic acid (D) at amino acid position 260 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