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NM_002644.4(PIGR):c.1306G>A (p.Ala436Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2024
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:
RCV004503745.1

Allele description [Variation Report for NM_002644.4(PIGR):c.1306G>A (p.Ala436Thr)]

NM_002644.4(PIGR):c.1306G>A (p.Ala436Thr)

Gene:
PIGR:polymeric immunoglobulin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_002644.4(PIGR):c.1306G>A (p.Ala436Thr)
HGVS:
  • NC_000001.11:g.206935558C>T
  • NG_012927.1:g.15909G>A
  • NM_002644.4:c.1306G>AMANE SELECT
  • NP_002635.2:p.Ala436Thr
  • NC_000001.10:g.207108903C>T
  • NM_002644.3:c.1306G>A
Protein change:
A436T
Molecular consequence:
  • NM_002644.4:c.1306G>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
SCV005005647Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 8, 2024) 		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, SCV005005647.1

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

Description

The c.1306G>A (p.A436T) alteration is located in exon 5 (coding exon 4) of the PIGR gene. This alteration results from a G to A substitution at nucleotide position 1306, causing the alanine (A) at amino acid position 436 to be replaced by a threonine (T). 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