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NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 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:
RCV004512360.1

Allele description [Variation Report for NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro)]

NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro)

Genes:
ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
POLR1G:RNA polymerase I subunit G [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro)
HGVS:
  • NC_000019.10:g.45409290T>C
  • NG_015839.2:g.74539A>G
  • NM_001166049.2:c.*385A>G
  • NM_001297590.3:c.1328T>C
  • NM_001369412.1:c.*385A>G
  • NM_001369413.1:c.*385A>G
  • NM_001369414.1:c.*385A>G
  • NM_001369415.1:c.*385A>G
  • NM_001369416.1:c.*385A>G
  • NM_001369417.1:c.*385A>G
  • NM_001369418.1:c.*385A>G
  • NM_001369419.1:c.*385A>G
  • NM_001983.4:c.*385A>GMANE SELECT
  • NM_012099.3:c.1322T>CMANE SELECT
  • NP_001284519.1:p.Leu443Pro
  • NP_036231.1:p.Leu441Pro
  • LRG_305t1:c.*385A>G
  • LRG_305:g.74539A>G
  • NC_000019.9:g.45912548T>C
  • NM_012099.1:c.1322T>C
Protein change:
L441P
Molecular consequence:
  • NM_001166049.2:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369412.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369413.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369414.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369415.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369416.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369417.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369418.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369419.1:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001983.4:c.*385A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001297590.3:c.1328T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012099.3:c.1322T>C - 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
SCV005007387Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 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, SCV005007387.1

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

Description

The c.1322T>C (p.L441P) alteration is located in exon 3 (coding exon 3) of the CD3EAP gene. This alteration results from a T to C substitution at nucleotide position 1322, causing the leucine (L) at amino acid position 441 to be replaced by a proline (P). 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: Sep 1, 2024