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NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 16, 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:
RCV004183406.1

Allele description [Variation Report for NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser)]

NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser)

Gene:
HAPLN3:hyaluronan and proteoglycan link protein 3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser)
HGVS:
  • NC_000015.10:g.88881381C>T
  • NM_001307952.2:c.655G>A
  • NM_178232.4:c.469G>AMANE SELECT
  • NP_001294881.1:p.Gly219Ser
  • NP_839946.1:p.Gly157Ser
  • NC_000015.9:g.89424612C>T
  • NM_178232.2:c.469G>A
Protein change:
G157S
Molecular consequence:
  • NM_001307952.2:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178232.4:c.469G>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
SCV003685212Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 16, 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, SCV003685212.2

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

Description

The c.469G>A (p.G157S) alteration is located in exon 3 (coding exon 2) of the HAPLN3 gene. This alteration results from a G to A substitution at nucleotide position 469, causing the glycine (G) at amino acid position 157 to be replaced by a serine (S). 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: Oct 26, 2024