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NM_003466.4(PAX8):c.1246G>A (p.Ala416Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 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:
RCV004783691.1

Allele description [Variation Report for NM_003466.4(PAX8):c.1246G>A (p.Ala416Thr)]

NM_003466.4(PAX8):c.1246G>A (p.Ala416Thr)

Gene:
PAX8:paired box 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.1
Genomic location:
Preferred name:
NM_003466.4(PAX8):c.1246G>A (p.Ala416Thr)
HGVS:
  • NC_000002.12:g.113220122C>T
  • NG_012384.1:g.63800G>A
  • NM_003466.4:c.1246G>AMANE SELECT
  • NM_013952.4:c.1167G>A
  • NM_013953.4:c.936G>A
  • NM_013992.4:c.834G>A
  • NP_003457.1:p.Ala416Thr
  • NP_039246.1:p.Arg389=
  • NP_039247.1:p.Arg312=
  • NP_054698.1:p.Arg278=
  • NC_000002.11:g.113977699C>T
Protein change:
A416T
Molecular consequence:
  • NM_003466.4:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013952.4:c.1167G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_013953.4:c.936G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_013992.4:c.834G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV005394818Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 23, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005394818.1

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

Description

Variant summary: PAX8 c.1246G>A (p.Ala416Thr) results in a non-conservative amino acid change located in the Paired-box protein 2 C-terminal domain (IPR022130) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 248190 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1246G>A in individuals affected with Hypothyroidism, Congenital, Nongoitrous, 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 18, 2024