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NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 6, 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:
RCV003172861.2

Allele description [Variation Report for NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr)]

NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr)

Gene:
PRG4:proteoglycan 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.1
Genomic location:
Preferred name:
NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr)
HGVS:
  • NC_000001.11:g.186307025G>A
  • NG_008248.2:g.15740G>A
  • NM_001127708.3:c.1183G>A
  • NM_001127709.3:c.1027G>A
  • NM_001127710.3:c.904G>A
  • NM_001303232.2:c.1177G>A
  • NM_005807.6:c.1306G>AMANE SELECT
  • NP_001121180.2:p.Ala395Thr
  • NP_001121181.2:p.Ala343Thr
  • NP_001121182.2:p.Ala302Thr
  • NP_001290161.1:p.Ala393Thr
  • NP_005798.3:p.Ala436Thr
  • NC_000001.10:g.186276157G>A
  • NM_005807.3:c.1306G>A
Protein change:
A302T
Molecular consequence:
  • NM_001127708.3:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127709.3:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127710.3:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303232.2:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005807.6:c.1306G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003867358Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 6, 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, SCV003867358.2

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

Description

The c.1306G>A (p.A436T) alteration is located in exon 7 (coding exon 6) of the PRG4 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 1, 2024