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NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 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:
RCV004018643.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)]

NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
HGVS:
  • NC_000002.12:g.227008112G>A
  • NG_011592.1:g.161448C>T
  • NM_000092.5:c.4715C>TMANE SELECT
  • NP_000083.3:p.Pro1572Leu
  • NP_000083.3:p.Pro1572Leu
  • LRG_231t1:c.4715C>T
  • LRG_231:g.161448C>T
  • LRG_231p1:p.Pro1572Leu
  • NC_000002.11:g.227872828G>A
  • NM_000092.4:c.4715C>T
  • P53420:p.Pro1572Leu
Protein change:
P1572L; PRO1572LEU
Links:
UniProtKB: P53420#VAR_008155; OMIM: 120131.0006; dbSNP: rs121912863
NCBI 1000 Genomes Browser:
rs121912863
Molecular consequence:
  • NM_000092.5:c.4715C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004929698Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 1, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C.

Am J Hum Genet. 1998 Nov;63(5):1329-40.

PubMed [citation]
PMID:
9792860
PMCID:
PMC1377543

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP.

BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175.

PubMed [citation]
PMID:
25381091
PMCID:
PMC4233041
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV004929698.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The c.4715C>T (p.P1572L) alteration is located in exon 47 (coding exon 46) of the COL4A4 gene. This alteration results from a C to T substitution at nucleotide position 4715, causing the proline (P) at amino acid position 1572 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: Aug 4, 2024