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NM_003263.4(TLR1):c.830C>T (p.Ser277Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV004470315.1

Allele description [Variation Report for NM_003263.4(TLR1):c.830C>T (p.Ser277Leu)]

NM_003263.4(TLR1):c.830C>T (p.Ser277Leu)

Gene:
TLR1:toll like receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_003263.4(TLR1):c.830C>T (p.Ser277Leu)
HGVS:
  • NC_000004.12:g.38798002G>A
  • NG_016228.1:g.11790C>T
  • NM_003263.4:c.830C>TMANE SELECT
  • NP_003254.2:p.Ser277Leu
  • NC_000004.11:g.38799623G>A
  • NM_003263.3:c.830C>T
Protein change:
S277L
Molecular consequence:
  • NM_003263.4:c.830C>T - 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
SCV004965308Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 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, SCV004965308.1

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

Description

The c.830C>T (p.S277L) alteration is located in exon 4 (coding exon 1) of the TLR1 gene. This alteration results from a C to T substitution at nucleotide position 830, causing the serine (S) at amino acid position 277 to be replaced by a leucine (L). 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